|
What is Ultra-Screen™?
Ultra-Screen™ is a revolutionary test performed in the first trimester
of pregnancy that screens pregnancies to identify those at increased risk of
having Down syndrome or Trisomy 18. By combining a blood test and a special
ultrasound, a very high percentage of pregnancies likely to have these problems
can be identified earlier than previously possible.
The blood is analyzed for two proteins called
freeBeta™ and PAPP-A which are normally
found in the blood of all pregnant women. The
ultrasound examines the baby's neck, measuring
the amount of fluid accumulation behind the neck
of the baby, called the nuchal translucency (NT). The
blood test is combined with the ultrasound measurement
to estimate a specific risk for Down syndrome
and Trisomy 18.
What abnormalities can the Ultra-Screen™ test
detect?
The blood test and the NT measurement together can detect over 90% of babies
with Down syndrome, 97% of babies with Trisomy 18, and 40% of babies with congenital
heart defects.
Chromosomes contain the genetic instructions
that direct how the baby will develop. Down syndrome
is a chromosome disorder, which occurs when a
baby receives an extra chromosome by chance at
conception. Down syndrome occurs in about
1 in 800 live-born babies, and leads to mental
retardation and other birth defects.
Trisomy 18 is a severe chromosome disorder that
causes profound mental retardation and multiple
birth defects. Like Down syndrome, the chance
to have a baby with Trisomy 18 increases with
the age of the parents.
How accurate is Ultra-Screen™?
Ultra-Screen™ has a very high detection rate for chromosome abnormalities,
and is able to detect over 90% of babies with Down syndrome or Trisomy 18. This
rate exceeds the detection rate of any second trimester screening program,
which typically detect from 65%-80% of Down syndrome. Ultra-Screen™ can
also detect additional abnormalities, including 40% of congenital heart defects
in the baby.
Can Ultra-Screen detect every birth defect?
No it cannot. No screening test available today can detect all birth defects. Ultra-Screen™ cannot
detect open neural tube defects or perinatal complications; thus, a 2nd trimester
MSAFP screen should be recommended. An ultrasound in the second trimester
is also recommended to assess the baby for other major abnormalities other
than these defects.
Why should I consider a screening test in the
first trimester?
Ultra-Screen™ is a test performed between 11-14 weeks of pregnancy. Since
most pregnancies are normal, most women can be reassured about the health of
their baby following the Ultra-Screen™ test. Importantly, this
reassurance is now available in the first trimester, at a time when only you
know you are pregnant. By testing earlier in pregnancy, you can have the reassurance
you are seeking earlier than any other test permits.
What if my test shows an increased risk?
An increased risk does not mean a chromosome disorder has been diagnosed. Your
doctor will discuss additional testing which can determine whether your baby
has a disorder or if there are other explanations for this test result. For
example, the blood protein levels show normal variations, or you may be further
along in the pregnancy than previously thought, or you may have twins. Additional
testing, including ultrasound and chromosome testing (amniocentesis or chorionic
villi sampling) can safely and accurately diagnose your baby's chromosome make-up.
Who is a candidate for Ultra-Screen™?
Screening should be offered to all pregnant women who are less than 35 years
of age, are between 11-14 weeks of pregnancy, and whose babies have a low
risk for Down syndrome and Trisomy 18. If you are over age 34 or have an
increased risk of a chromosome problem in your baby, you may still have an
Ultra-Screen™ performed. However, it is still recommended that
you consider having a CVS or amniocentesis for prenatal chromosome testing.
Where Can I be seen for a First Trimester Ultrascreen™ appointment?
Patients may be seen in the office of a certified provider for both the ultrasound
and laboratory services. The Center for Medical Genetics have a complete
network of certified ultrasonographers and perinatologists who offer these
services in many cities. Contact us so we may refer you to someone near
your location.
Ultrascreen™ providers have completed
a rigorous training course and ongoing testing
of their proficiency in order to provide the
quality needed to perform this testing. Be aware
that while many individuals provide ultrasounds,
only ultrasonographers formally certified through
the Fetal Medicine Foundation and testing using
PAPP-A and freeBeta™ , are providers
of Ultrascreen™.
Click
Here to Download Patient Brochure
Click
Here to Place an Order
Click
Here to Request Appointment
| 
